Patients with acephalic spermatozoa syndrome linked to SUN5 mutations have a favorable pregnancy outcome from ICSI
Abstract
Study question Are Sad1 and UNC84 domain containing 5 (SUN5) mutations associated with the outcomes of ICSI in patients with acephalic spermatozoa syndrome (ASS)? Summary answer Despite highly abnormal sperm morphology, ASS patients with SUN5 mutations have a favorable pregnancy outcome following ICSI. What is known already ASS is a rare cause of infertility characterized by the production of a majority of headless spermatozoa, along with a small proportion of intact spermatozoa with an abnormal head-tail junction. Previous studies have demonstrated that SUN5 mutations may cause ASS. Several studies showed that ICSI could help patients with ASS father children. Study design, size, duration This retrospective cohort study included 11 infertile ASS males with SUN5 mutations. Five of them underwent five ICSI cycles. Their ICSI results were compared to men with ASS without SUN5 mutations (n = 3) and to men with multiple morphological abnormalities of the sperm flagella (MMAF) (n = 9). All ICSI treatments were completed between Jan 2011 and May 2017. Participants/materials, setting, methods Sanger DNA sequencing was used to detect mutations in SUN5. Clinical and biological data were collected from patients at the fertility center. Main results and the role of chance Sanger sequencing validated 11 patients with SUN5 mutations. Three novel mutations in SUN5 (c.829C>T [p.Q277*]; c.1067G>A [p.R356H]; c.211+1 insGT [p.S71Cfs11*]) were identified in three patients. The rates of fertiliz…
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Live births after ICSI have been reported in acephalic/pinhead sperm syndrome, in particular when the few residual spermatozoa with a head and a tail were used.
“However, live births after ICSI have been reported, in particular when the few residual spermatozoa with a head and a tail were used, [50, 60, 61, 62, 63].”
From Recommendations for Human Sperm Morphology Assessment in 2025: An Expert Review From the French BLEFCO Group (2026) · cites this paper as [62]
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- Authors
- Fang, J., Zhang, J., Zhu, F., Yang, X., Cui, Y., & Liu, J.
- Affiliations
- Jiangsu Province Hospital (CN)
- Anhui Medical University (CN)
- Corresponding author
- Zhu, Fuxi
- Yang, Xiaoyu
- Venue
- Human Reproduction
- Publisher
- Oxford University Press (OUP)
- Published
- 2018-01-10
- Volume
- 33
- Issue
- 3
- Pages
- 372-377
- ISSN
- 0268-1161 (ISSN-L)
- 1460-2350
- OpenAlex
- W2784243792
- Cited by
- 49
- References
- 15
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 13 · 2023: 3 · 2022: 6 · 2021: 8 · 2020: 8 · 2019: 1 · 2018: 2
- FWCI
- 3.49
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Reproduction (publishedVersion, public-domain)
- PubMed (publishedVersion)
- Funders
- National Natural Science Foundation of China (81401251, 81370754, 81170559)
- Jiangsu Province Special Program of Medical Science (BL2012009, ZX201110, FXK201221)
- Jiangsu High Education Institutions (JX10231802)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Health Sciences › Medicine › Reproductive Medicine › Reproductive Health and Technologies
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Keywords
- acephalic spermatozoa syndrome, intracytoplasmic sperm injection, male infertility, sperm flagella abnormalities, fertilization rate, embryo quality, pregnancy outcomes, novel mutations
- MeSH terms
- Female, Humans, Infertility, Male, Male, Membrane Proteins, Mutation, Pregnancy, Pregnancy Outcome, Proteins, Retrospective Studies, Pregnancy Rate, Sperm Injections, Intracytoplasmic
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